{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T19:06:34Z","timestamp":1767467194168,"version":"3.48.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T00:00:00Z","timestamp":1767398400000},"content-version":"vor","delay-in-days":39,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Construction of a Chinese Children's Immune Disease Research Network Platform"},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the 2019 Nanjing Municipal Health Science and Technology Development Special Fund"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"DOI":"10.1186\/s12882-025-04641-y","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T16:07:24Z","timestamp":1764086844000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unprecedented coexistence of Dent\u2019s disease type 1 and Wilson\u2019s disease in a two-year-old Chinese boy: implications for precision medicine"],"prefix":"10.1186","volume":"27","author":[{"given":"Qingxian","family":"Mao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai W.","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruochen","family":"Che","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueqin","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guixia","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"issue":"5","key":"4641_CR1","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1093\/ndt\/gfaf003","volume":"40","author":"A B\u00f6kenkamp","year":"2025","unstructured":"B\u00f6kenkamp A, Ariceta G, B\u00f6ckenhauer D, Devuyst O, Emma F, van Bennekom D, Levtchenko E, Sayer J, Servais A, Vargas R, Zaniew M, Prikhodina L. Dent disease: clinical practice recommendations. Nephrology, dialysis, transplantation: official publication of the European Dialysis and transplant association. - Eur Ren Association. 2025;40(5):852\u201364. https:\/\/doi.org\/10.1093\/ndt\/gfaf003.","journal-title":"- Eur Ren Association"},{"issue":"3","key":"4641_CR2","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1034\/j.1600-0676.2003.00824.x","volume":"23","author":"P Ferenci","year":"2003","unstructured":"Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F. Diagnosis and phenotypic classification of Wilson disease. Liver International: Official J Int Association Study Liver. 2003;23(3):139\u201342. https:\/\/doi.org\/10.1034\/j.1600-0676.2003.00824.x.","journal-title":"Liver International: Official J Int Association Study Liver"},{"issue":"1","key":"4641_CR3","doi-asserted-by":"publisher","first-page":"2349133","DOI":"10.1080\/0886022X.2024.2349133","volume":"46","author":"Q Li","year":"2024","unstructured":"Li Q, Yang Z, Zang R, Liu S, Yu L, Wang J, Wang C, Wang X, Sun S. Clinical features and genetic analysis of 15 Chinese children with Dent disease. Ren Fail. 2024;46(1):2349133. https:\/\/doi.org\/10.1080\/0886022X.2024.2349133.","journal-title":"Ren Fail"},{"issue":"8","key":"4641_CR4","doi-asserted-by":"publisher","first-page":"1504","DOI":"10.1111\/liv.13754","volume":"38","author":"C Wang","year":"2018","unstructured":"Wang C, Zhou W, Huang Y, Yin H, Jin Y, Jia Z, Zhang A, Liu Z, Zheng B. Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease. Liver International: Official J Int Association Study Liver. 2018;38(8):1504\u201313. https:\/\/doi.org\/10.1111\/liv.13754.","journal-title":"Liver International: Official J Int Association Study Liver"},{"issue":"14","key":"4641_CR5","doi-asserted-by":"publisher","first-page":"8472","DOI":"10.1073\/pnas.1432873100","volume":"100","author":"EI Christensen","year":"2003","unstructured":"Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of Megalin and Cubilin in kidney proximal tubules. Proc Natl Acad Sci USA. 2003;100(14):8472\u20137. https:\/\/doi.org\/10.1073\/pnas.1432873100.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6810","key":"4641_CR6","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/35042597","volume":"408","author":"N Piwon","year":"2000","unstructured":"Piwon N, G\u00fcnther W, Schwake M, B\u00f6sl MR, Jentsch TJ. ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for dent\u2019s disease. Nature. 2000;408(6810):369\u201373. https:\/\/doi.org\/10.1038\/35042597.","journal-title":"Nature"},{"issue":"20","key":"4641_CR7","doi-asserted-by":"publisher","first-page":"2937","DOI":"10.1093\/hmg\/9.20.2937","volume":"9","author":"SS Wang","year":"2000","unstructured":"Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S, Guggino WB. Mice lacking renal chloride channel, CLC-5, are a model for dent\u2019s disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet. 2000;9(20):2937\u201345. https:\/\/doi.org\/10.1093\/hmg\/9.20.2937.","journal-title":"Hum Mol Genet"},{"key":"4641_CR8","doi-asserted-by":"publisher","unstructured":"Novarino G, Weinert S, Rickheit G, Jentsch TJ. Endosomal chloride\u2013proton exchange rather than chloride conductance is crucial for renal endocytosis. Science. 2010;328(5984):1398\u2013401. https:\/\/doi.org\/10.1126\/science.1188070.","DOI":"10.1126\/science.1188070"},{"key":"4641_CR9","doi-asserted-by":"publisher","unstructured":"Devuyst O, Thakker RV. Dent\u2019s disease. Orphanet J Rare Dis. 2010;5:28. https:\/\/doi.org\/10.1186\/1750-1172-5-28.","DOI":"10.1186\/1750-1172-5-28"},{"issue":"4","key":"4641_CR10","doi-asserted-by":"publisher","first-page":"sfae058","DOI":"10.1093\/ckj\/sfae058","volume":"17","author":"J Dang","year":"2024","unstructured":"Dang J, Chevalier K, Letavernier E, Tissandier C, Mouawad S, Debray D, Obadia M, Poujois A. Kidney involvement in wilson\u2019s disease: a review of the literature. Clin Kidney J. 2024;17(4):sfae058. https:\/\/doi.org\/10.1093\/ckj\/sfae058.","journal-title":"Clin Kidney J"},{"key":"4641_CR11","first-page":"161","volume":"7","author":"JC Crawhall","year":"1981","unstructured":"Crawhall JC. Proteinuria in D-penicillamine-treated rheumatoid arthritis. J Rheumatol Suppl. 1981;7:161\u20133.","journal-title":"J Rheumatol Suppl"},{"issue":"4","key":"4641_CR12","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1007\/BF02086822","volume":"11","author":"P Jezersek","year":"1979","unstructured":"Jezersek P, Ferluga D. Nephrotic syndrome induced by D-penicillamine therapy. Int Urol Nephrol. 1979;11(4):349\u201361. https:\/\/doi.org\/10.1007\/BF02086822.","journal-title":"Int Urol Nephrol"},{"issue":"5","key":"4641_CR13","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/j.ejim.2006.03.001","volume":"17","author":"GS Habib","year":"2006","unstructured":"Habib GS, Saliba W, Nashashibi M, Armali Z. Penicillamine and nephrotic syndrome. Eur J Intern Med. 2006;17(5):343\u20138. https:\/\/doi.org\/10.1016\/j.ejim.2006.03.001.","journal-title":"Eur J Intern Med"},{"issue":"5","key":"4641_CR14","doi-asserted-by":"publisher","first-page":"673","DOI":"10.7326\/0003-4819-82-5-673","volume":"82","author":"I Sternlieb","year":"1975","unstructured":"Sternlieb I, Bennett B, Scheinberg IH. D-penicillamine induced goodpasture\u2019s syndrome in wilson\u2019s disease. Ann Intern Med. 1975;82(5):673\u20136. https:\/\/doi.org\/10.7326\/0003-4819-82-5-673.","journal-title":"Ann Intern Med"},{"issue":"4","key":"4641_CR15","doi-asserted-by":"publisher","first-page":"297","DOI":"10.5582\/irdr.2016.01058","volume":"5","author":"G He","year":"2016","unstructured":"He G, Zhang H, Cao S, Xiao H, Yao Y. Dent\u2019s disease complicated by nephrotic syndrome: A case report. Intractable Rare Dis Res. 2016;5(4):297\u2013300. https:\/\/doi.org\/10.5582\/irdr.2016.01058.","journal-title":"Intractable Rare Dis Res"},{"issue":"11","key":"4641_CR16","doi-asserted-by":"publisher","first-page":"2363","DOI":"10.1007\/s00467-010-1615-x","volume":"25","author":"R Bogdanovi\u0107","year":"2010","unstructured":"Bogdanovi\u0107 R, Draaken M, Toromanovi\u0107 A, Dordevi\u0107 M, Staji\u0107 N, Ludwig M. A novel CLCN5 mutation in a Boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol. 2010;25(11):2363\u20138. https:\/\/doi.org\/10.1007\/s00467-010-1615-x.","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"4641_CR17","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1186\/s12882-020-01827-4","volume":"21","author":"Y Ye","year":"2020","unstructured":"Ye Y, Wang J, Quan X, Xu K, Fu H, Gu W, Mao J. Case report: a Chinese Girl with Dent disease 1 and Turner syndrome due to a hemizygous CLCN5 gene mutation and isochromosome (Xq). BMC Nephrol. 2020;21(1):171. https:\/\/doi.org\/10.1186\/s12882-020-01827-4.","journal-title":"BMC Nephrol"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-025-04641-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-025-04641-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-025-04641-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T19:04:32Z","timestamp":1767467072000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12882-025-04641-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,25]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4641"],"URL":"https:\/\/doi.org\/10.1186\/s12882-025-04641-y","relation":{},"ISSN":["1471-2369"],"issn-type":[{"type":"electronic","value":"1471-2369"}],"subject":[],"published":{"date-parts":[[2025,11,25]]},"assertion":[{"value":"5 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The parents, who are legal guardians, of the patient had been informed about the availability and importance of genetic tests and the parents contented to the use of the anonymized test results and de-identified health information as described in this article. This study was approved by the Institutional Review Board (IRB) of Children\u2019s Hospital of Nanjing Medical University. All procedures complied strictly with the ethical principles of the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"4"}}